viernes, 28 de febrero de 2014

Marketing authorisations and medicinal products designations

Detailed information on European orphan medicinal products designation applications is available on theEMA website. A full list of designated and authorised orphan medicinal products in Europe available at:ec.europa.eu.

Recent marketing authorisations

Opsumit (macitentan)

Opsumit is a medicine that contains the active substance macitentan. It is used for the long-term treatment of pulmonary arterial hypertension (PAH), a condition in which there is abnormally high blood pressure in the arteries of the lungs, causing symptoms such as breathlessness and fatigue.

Opsumit is used for adults whose PAH is classified as ‘WHO functional class II to class III’. The ‘class’ reflects the seriousness of the disease: patients with class II PAH have slight limitation of physical activity and those with class III disease have marked limitation of physical activity. Opsumit can be used alone or in combination with other PAH medicines; for further information, see the package leaflet.

Because the number of patients with PAH is low, the disease is considered ‘rare’, and Opsumit was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 27 September 2011.

Orphacol (cholic acid)

Orphacol is a medicine containing cholic acid, a substance found in the bile which is used to digest fats.

It is used to treat adults and children from one month of age who have a genetic abnormality that makes them unable to produce bile. Orphacol is used in patients who do not have enough of two specific liver enzymes (3β-Hydroxy-Δ5-C27-steroid oxidoreductase or Δ4-3-Oxosteroid-5β-reductase). This makes their liver unable to produce enough of the main components of bile, called primary bile acids, such as cholic acid. When these primary bile acids are lacking, the body produces abnormal bile acids instead which can damage the liver, potentially leading to life-threatening liver failure.

Because the number of patients with inborn errors in primary bile acid synthesis is low, the condition is considered ‘rare’, and Orphacol was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 18 December 2002.

Defitelio (defibrotide)

Defitelio is a medicine containing the active substance defibrotide. It is used to treat severe veno-occlusive disease (VOD) in patients undergoing haematopoietic (blood) stem-cell transplantation. VOD is a condition in which the veins in the liver become blocked, leading to liver dysfunction. Defitelio is used in adults and in children from one month of age.

Because the number of patients with VOD is low, the disease is considered ‘rare’, and Defitelio was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 29 July 2004.

Imnovid (pomalidomide)

Imnovid is an anticancer medicine that contains the active substance pomalidomide. It is used in combination with dexamethasone (an anti-inflammatory medicine) to treat multiple myeloma (a cancer of the bone marrow). It is used in adults who have received at least two prior therapies, including both lenalidomide and bortezomib, and whose disease progressed after the last treatment.

Because the number of patients with multiple myeloma is low, the disease is considered ‘rare’, and Imnovid was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 8 October 2009.

Procysbi (cysteamine (as mercaptamine bitartrate))

Procysbi is a medicine that contains the active substance mercaptamine (also known as cysteamine). It is used in patients with nephropathic (kidney) cystinosis. Cystinosis is an inherited disease in which excess amounts of cystine, an amino acid naturally found in the body, build up within cells, especially in the kidneys and the eyes, damaging them.

Because the number of patients with cystinosis is low, the disease is considered ‘rare’, and Procysbi was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 20 September 2010.

Procysbi is a ‘hybrid medicine’. This means that it is similar to a ‘reference medicine’ containing the same active substance, but Procysbi is available in a formulation that allows for a delayed release of the active substance in the body. The reference medicine for Procysbi is Cystagon.

Iclusig (ponatinib)

Iclusig is an anticancer medicine that contains the active substance ponatinib. It is used to treat adults with the following types of leukaemia (cancer of the white blood cells):

chronic myeloid leukaemia (CML) in its different stages known as chronic, accelerated and blast phases;

acute lymphoblastic leukaemia (ALL) in patients who are ‘Philadelphia-chromosome-positive’ (Ph+). Ph+ means that some of the patient’s genes have rearranged themselves to form a special chromosome called the Philadelphia chromosome that leads to the development of leukaemia. The Philadelphia chromosome is found in some ALL patients but is present in most patients with CML.

Iclusig is used in patients who cannot tolerate or do not respond to dasatinib or nilotinib (other anticancer medicines) and for whom subsequent treatment with imatinib is not considered appropriate. It is also used in patients who have a genetic mutation called ‘T315I mutation’ which makes them resistant to treatment with imatinib, dasatinib or nilotinib.

Because the numbers of patients with CML and ALL are low, the diseases are considered ‘rare’, and Iclusig was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 2 February 2010.

Revlimid (lenalidomide)

Revlimid is a medicine that contains the active substance lenalidomide. It is available as capsules (2.5 mg, 5 mg, 7.5 mg, 10 mg, 15 mg and 25 mg).

What is Revlimid used for?

Revlimid is an anticancer medicine originally indicated to treat adults with multiple myeloma.On 25 April 2013, the CHMP adopted the following new therapeutic indication for Revlimid: myelodysplastic syndromes.

Revlimid is indicated for the treatment of patients with transfusion-dependent anaemia due to low- or intermediate-1-risk myelodysplastic syndromes associated with an isolated deletion 5q cytogenetic abnormality when other therapeutic options are insufficient or inadequate.

Bosulif (bosutinib)

Bosulif is an anticancer medicine that contains the active substance bosutinib. It is used to treat adults with chronic myeloid leukaemia (CML), a cancer of the white blood cells in which granulocytes (a type of white blood cell) start growing out of control.

Bosulif is used in patients who are ‘Philadelphia-chromosome-positive’ (Ph+). This means that some of the patient’s genes have re-arranged themselves to form a special chromosome called the Philadelphia chromosome. Bosulif is used to treat three stages of CML called ‘chronic phase’, ‘accelerated phase’ and ‘blast phase’. It is only used when the CML has already been treated with one or more tyrosine kinase inhibitors (medicines for CML which work in a similar way to Bosulif) and when the tyrosine kinase inhibitors called imatinib, nilotinib and dasatinib are not considered appropriate treatment options.

Because the number of patients with CML is low, the disease is considered ‘rare’, and Bosulif was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 4 August 2010.

NexoBrid (concentrate of proteolytic enzymes enriched in bromelain)

What is NexoBrid?NexoBrid is a medicine that contains the active substance ‘concentrate of proteolytic enzymes enriched in bromelain’. It is available as a powder and gel, which are mixed together to make a gel (2 g/22 g or 5 g/55 g).

What is NexoBrid used for?NexoBrid is used in adults to remove eschar (dead tissue which is dried-out, thick, leathery and black) from deep partial thickness and full thickness burns of the skin caused by heat or fire. Deep partial thickness burns (sometimes called ‘second degree’ burns) extend into a deep region of an inner layer of the skin called the dermis, while full thickness burns (sometimes called ‘third degree’ burns) extend even deeper, through the whole dermis.Because the number of patients with deep partial thickness and full thickness thermal burn wounds is low, the disease is considered ‘rare’, and NexoBrid was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 30 July 2002.The medicine can only be obtained with a prescription.

Glybera (alipogene tiparvovec)

What is Glybera?Glybera is a medicine that contains the active substance alipogene tiparvovec. It is available as a solution for injection.Glybera is a type of advanced therapy medicine called a ‘gene therapy product’. This is a type of medicine that works by delivering genes into the body.

What is Glybera used for?Glybera is used to treat adults with lipoprotein lipase deficiency who have severe or multiple attacks of pancreatitis (inflammation of the pancreas) despite maintaining a low-fat diet.Lipoprotein lipase deficiency is a rare disease in which patients have a defect in the gene for lipoprotein lipase, an enzyme responsible for breaking down fats. Patients with this disease need to be on a strict low-fat diet and are prone to recurring attacks of pancreatitis, which is a severe and life-threatening complication.Glybera is only for patients whose disease has been confirmed by appropriate genetic testing and who have detectable levels of the lipoprotein lipase enzyme in their blood.Because the number of patients with lipoprotein lipase deficiency is low, the disease is considered ‘rare’, and Glybera was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 8 March 2004.The medicine can only be obtained with a prescription.

Adcetris ( brentuximab vedotin)

Treatment of Hodgkin lymphomaTakeda Global Research and Development Centre (Europe) LtdUnited Kingdom25/10/2012

What is Adcetris?Adcetris is a medicine that contains the active substance brentuximab vedotin. It is available as a powder that is made up into a solution for infusion (drip into a vein).

What is Adcetris used for?Adcetris is used to treat adults with Hodgkin lymphoma (HL, a type of cancer that originates from blood cells in the lymphatic system, a part of the immune system) when the tumour cells are CD30-positive (when they have a protein called CD30 on their surface). It is used:when the cancer has come back or has not responded to an autologous stem cell transplant (a transplant of the patient's own blood-producing cells);

when the cancer has come back or has not responded to at least two previous therapies and when autologous stem cell transplant or multi-agent chemotherapy (a combination of anticancer medicines) are not treatment options.

Adcetris is also used to treat systemic anaplastic large cell lymphoma (sALCL, a CD30-positive cancer of white blood cells called T lymphocytes), when the cancer has come back or has not responded to other treatments.Because the number of patients with HL and sALCL is low, the diseases are considered ‘rare’, and Adcetris was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 15 January 2009.The medicine can only be obtained with a prescription.

Signifor (pasireotide)

What is Signifor?Signifor is a medicine that contains the active substance pasireotide. It is available as a solution for injection.

What is Signifor used for?Signifor is used to treat adults with Cushing’s disease when surgery has failed or is not an option.Cushing’s disease is caused by a tumour of the pituitary gland (a gland located at the base of the brain) releasing too much of a hormone called ACTH that stimulates the production of too much cortisol (a hormone also known as the ‘stress hormone’ because it is released in response to stress).Because the number of patients with Cushing’s disease is low, the disease is considered ‘rare’, and Signifor was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 8 October 2009.

Dacogen (decitabine)

What is Dacogen?Dacogen is a powder that is made up into a solution for infusion (drip into a vein). It contains the active substance decitabine.

What is Dacogen used for?Dacogen is used to treat adults aged 65 or older with acute myeloid leukaemia (AML), a type of cancer affecting the white blood cells. It is used in patients with newly diagnosed AML who are not eligible for initial treatment with standard chemotherapy (anticancer medicines).Because the number of patients with AML is low, the disease is considered ‘rare’, and Dacogen was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 8 June 2006.The medicine can only be obtained with a prescription.

Revestive (teduglutide)

Short bowel syndromeNycomed Danmark APSDenmark30/08/2012

What is Revestive? Revestive is a medicine that contains the active substance teduglutide. It is available as a powder and a solvent to be made up into a solution for injection.What is Revestive used for? Revestive is used to treat adults with short bowel syndrome. Short bowel syndrome is a condition in which nutrients and fluids are not properly absorbed by the gut, usually following the surgical removal of a large portion of the small intestine. Revestive is used after ‘intestinal adaptation’ has occurred (changes in the function of the bowel to compensate for its reduced size following surgery).Because the number of patients with short bowel disease is low, the disease is considered ‘rare’, and Revestive was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 11 December 2001.The medicine can only be obtained with a prescription.

Jakavi (ruxolitinib)

myelofibrosisNovartis Europharm Limited, UKUnited-Kingdom23/08/2012

What is Jakavi? Jakavi is a medicine that contains the active substance ruxolitinib. It is available as tablets (5, 15 and 20 mg).

What is Jakavi used for? Jakavi is used to treat adults with myelofibrosis who have splenomegaly (enlarged spleen) or symptoms related to the disease such as fever, night sweats, bone pain and weight loss.Myelofibrosis is a disease in which the bone marrow becomes very dense and rigid and produces abnormal, immature blood cells. Jakavi can be used in three types of the disease: primary myelofibrosis (also known as chronic idiopathic myelofibrosis, where the cause is unknown), post polycythaemia vera myelofibrosis (where the disease is linked to an overproduction of red blood cells) and post essential thrombocythaemia myelofibrosis (where the disease is linked to an overproduction of platelets, components that help the blood to clot).Because the number of patients with these diseases is low, they are considered ‘rare’, and Jakavi was designated an ‘orphan medicine’ (a medicine used in rare diseases) for chronic idiopathic myelofibrosis on 7 November 2008 and for myelofibrosis secondary to polycythaemia vera or essential thrombocythaemia on 3 April 2009.The medicine can only be obtained with a prescription.

Kalydeco (ivacaftor)

What is Kalydeco?Kalydeco is a medicine that contains the active substance ivacaftor. It is available as tablets (150 mg).

What is Kalydeco used for?Kalydeco is used to treat cystic fibrosis in patients aged six years and above who have the G551D mutation in their gene for the protein called cystic fibrosis transmembrane conductance regulator (CFTR). Cystic fibrosis is an inherited disease that affects the cells that secrete mucus in the lungs, and the cells that secrete digestive juices from the glands in the gut and pancreas. In cystic fibrosis these secretions become thick, blocking the airways and the flow of digestive juices. This leads to problems with the digestion and absorption of food, resulting in poor growth, and long-term infection and inflammation of the lungs because of excess mucus not being cleared away. Because the number of patients with cystic fibrosis is low, the disease is considered ‘rare’, and Kalydeco was designated an ‘orphan medicine’ (a medicine used in rare diseases) on 8 July 2008.The medicine can only be obtained with a prescription.

EURORDIS Position on RD Research

EURORDIS has produced two Position Papers that delineate the ethical, social, economic and scientific grounds that research on rare diseases rests upon.The EURORDIS position calls for public policy intervention to address the shortcomings still to be overcome in this field: short-term investments, the large majority of RDs lacking a research project or a research ‘community’, scattered resources and expertise, scarce research on health economics and in socio-psychological areas.

RD research should not happen in isolation from health research in general. By feeding innovation, rare disease research contributes to EU competitiveness in a knowledge-based society. Nonetheless, the EURORDIS Position Papers argue that rare diseases should be a health research priority. Consequently, more substantial budgetary support for RD research should be provided in response to three main imperatives...

Rare Disease Day 2014: Participants in over 80 countries Join Together for Better Care!

Today is our day. 28 February 2014. Rare Disease Day 2014. Let the world know! There are many ways you can share the news that Rare Disease Day is TODAY!

A multitude of activities and events are already unfolding: a television interview in Kenya; a Fun Play Day in Lebanon; an informational awareness-raising campaign in Paraguay; a march in Austria; an auction in Canada; a photo exhibit in China; a seminar in India – the list goes on and on – all the way around the world as thousands of participants from over 80 countries Join Together for Better Careon Rare Disease Day 2014!

Many HIV/AIDS organizations, including AIDS United , receive grants from the federal government for the programs we develop and implement that are helping us to bring about the end of HIV/AIDS in the United States and around the world. Without these federal funds, many of our community’s critical, life-saving programs would not exist or be drastically...

A Better Test for Down Syndrome?

WEDNESDAY, Feb. 26, 2014 (HealthDay News) -- A new test that examines fetal DNA from a mother's blood is more accurate at spotting chromosomal abnormalities such as Down syndrome than standard tests offered to pregnant women, a new study indicates.

Scientists found that the blood test, known as cell-free DNA, performed up to 10 times better than other noninvasive tests currently used to screen for "aneuploidy" -- one or more missing chromosomes that can signal conditions such as Down or Edwards syndromes. Both can cause intellectual and physical disabilities. Infants born with Edwards syndrome rarely live beyond one year.

"We had suspected the DNA test would perform well, but what was needed was this head-to-head comparison with the current standard of care," said study author Dr. Diana Bianchi, executive director of the Mother Infant Research Institute at Tufts Medical Center in Boston. "The cell-free DNA has a much lower false positive rate, which means fewer women will be alarmed unnecessarily and fewer will have to go to a genetic counselor or have an invasive procedure" to determine if their baby has a chromosomal defect.

The study, funded by Illumine Inc., the San Diego manufacturer of the new test, is published Feb. 27 in the New England Journal of Medicine.

Noninvasive prenatal screening began in the 1970s. Current tests looking for abnormalities include ultrasound imaging and maternal blood tests measuring a protein that's considered an indicator for Down syndrome.

If these screening tests predict an increased risk for chromosomal defects, pregnant women are typically urged to undergo invasive testing such as amniocentesis or chorionic villus sampling, which extract fetal DNA from the amniotic fluid or placenta, respectively. While these procedures can tell for certain if a fetus is abnormal, they also raise the risk of miscarriage.

At 21 centers in the United States, Bianchi's team collected blood samples from more than 1,900 pregnant women, average age 30, undergoing standard aneuploidy screening. The researchers compared the results with those obtained from cell-free DNA tests.

While the new technique, available since 2011, had been tested previously among women at high risk of bearing children with chromosomal abnormalities, this trial was the first among a general population of pregnant women with typical risks.

The study found that incorrect or "false positive" results for chromosomal defects stemming from cell-free DNA testing were significantly lower than those with standard screening -- 0.5 percent compared to 4.2 percent for Down and Edwards syndromes combined.

"I think this is a stronger test," said Dr. Edward McCabe, senior vice president and chief medical officer of the March of Dimes, who was not involved in the study. "I think more research is needed ... but I'm comfortable with the conclusion here that if your [cell-free DNA] test is negative, that's a strong indication your baby's not affected" by aneuploidy.

Bianchi agreed that additional research is needed before the cell-free DNA test can replace standard screening tests among low-risk pregnant women. She also noted that the cost of the new test is a concern -- from $500 to $2,000 depending on different factors, although insurance companies typically cover it for high-risk women. Obstetricians would also need to be educated about its use, she said.

C-Section Birth May Raise Risk of Adult Obesity: Study

WEDNESDAY, Feb. 26, 2014 (HealthDay News) -- Babies born by cesarean section seem more likely to be overweight or obese later in life, a new study contends.

The odds of being overweight are 26 percent higher for cesarean babies than those born vaginally, found researchers at Imperial College London, in England.

As the number of cesarean deliveries increases in many countries, pregnant women should be advised about the possible long-term consequences, the researchers said.

"There are good reasons why C-section may be the best option for many mothers and their babies, and C-sections can, on occasion, be lifesaving," senior study author Neena Modi said in a college news release. "However, we need to understand the long-term outcomes in order to provide the best advice to women who are considering cesarean delivery."

Previous studies have suggested that long-term health effects linked to cesarean births include childhood asthma and type 1 diabetes, the news release noted. In examining a possible link between this surgical procedure and obesity, the researchers analyzed information compiled from 15 studies that included more than 38,000 women from 10 different countries.

The new review, published Feb. 26 in PLoS ONE, found that the average body-mass index (BMI) of adults born by cesarean section was about one-half unit greater than the average BMI of babies born vaginally. BMI is a measurement of body fat that takes height and weight into account.

It should be noted that the study found an association between cesarean birth and increased odds of being overweight or obese in adulthood, but it didn't prove cause-and-effect.

The reason for this apparent link remains unclear, the researchers noted, and other factors not considered in their study could play a role.

"This study shows that babies born by C-section are more likely to be overweight or obese later in life," Modi said. "We now need to determine whether this is the result of the C-section, or if other reasons explain the association."

"The types of healthy bacteria in the gut differ in babies born by cesarean and vaginal delivery, which can have broad effects on health," Hyde said in the news release. "Also, the compression of the baby during vaginal birth appears to influence which genes are switched on, and this could have a long-term effect on metabolism."

Roughly one in three to four births in England is by cesarean section, the release noted. Meanwhile, 60 percent of pregnant women in China and nearly 50 percent of those in Brazil are having this type of delivery.